Literature DB >> 7681622

Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.

N Shimozawa, Y Suzuki, T Orii, A Moser, H W Moser, R J Wanders.   

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Year:  1993        PMID: 7681622      PMCID: PMC1682069     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  4 in total

1.  Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells.

Authors:  S Yajima; Y Suzuki; N Shimozawa; S Yamaguchi; T Orii; Y Fujiki; T Osumi; T Hashimoto; H W Moser
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

2.  Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients.

Authors:  A A Roscher; S Hoefler; G Hoefler; E Paschke; F Paltauf; A Moser; H Moser
Journal:  Pediatr Res       Date:  1989-07       Impact factor: 3.756

3.  A human gene responsible for Zellweger syndrome that affects peroxisome assembly.

Authors:  N Shimozawa; T Tsukamoto; Y Suzuki; T Orii; Y Shirayoshi; T Mori; Y Fujiki
Journal:  Science       Date:  1992-02-28       Impact factor: 47.728

4.  Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.

Authors:  S Brul; A Westerveld; A Strijland; R J Wanders; A W Schram; H S Heymans; R B Schutgens; H van den Bosch; J M Tager
Journal:  J Clin Invest       Date:  1988-06       Impact factor: 14.808

  4 in total
  27 in total

1.  Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency).

Authors:  R J Wanders; P A Mooijer; C Dekker; Y Suzuki; N Shimozawa
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

Review 2.  Peroxisomal disorders: clinical, biochemical, and molecular aspects.

Authors:  R J Wanders
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

3.  A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids.

Authors:  E Christensen; S A Pedersen; H Leth; C Jakobs; R B Schutgens; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1997-09       Impact factor: 4.982

4.  Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome.

Authors:  B C Paton; S E Heron; P V Nelson; C P Morris; A Poulos
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

Review 5.  Diagnostic work-up of a peroxisomal patient.

Authors:  J G Leroy; M Espeel; J F Gadisseux; H Mandel; M Martinez; B T Poll-The; R J Wanders; F Roels
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 6.  Signals on proteins, intracellular targeting and inborn errors of organellar metabolism.

Authors:  J M Tager; J M Aerts; C van den Bogert; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

Review 7.  Peroxisomal disorders: a review.

Authors:  B Fournier; J A Smeitink; L Dorland; R Berger; J M Saudubray; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

8.  Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.

Authors:  C C Chang; S J Gould
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

9.  The Pichia pastoris PER6 gene product is a peroxisomal integral membrane protein essential for peroxisome biogenesis and has sequence similarity to the Zellweger syndrome protein PAF-1.

Authors:  H R Waterham; Y de Vries; K A Russel; W Xie; M Veenhuis; J M Cregg
Journal:  Mol Cell Biol       Date:  1996-05       Impact factor: 4.272

10.  Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.

Authors:  F Mochel; A-G Grébille; A Benachi; J Martinovic; F Razavi; D Rabier; I Simon; N Boddaert; F Brunelle; P Sonigo
Journal:  AJNR Am J Neuroradiol       Date:  2006-02       Impact factor: 3.825

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